PDF(Pubmed)
Abstract：
Autoimmune diseases are multifaceted disorders, and their coexistence with other conditions can present unique challenges in diagnosis and management. Here, we report a rare case of autosomal recessive hyper-IgE syndrome (AR-HIES) in a child with beta thalassemia trait. AR-HIES is a distinct immunodeficiency disorder characterized by severe eczema and recurrent bacterial and viral infections, particularly affecting the sinopulmonary system. This case highlights the importance of recognizing and managing the co-occurrence of rare genetic conditions, as it can impact treatment strategies and familial counseling. This unique case of AR-HIES in a child with beta thalassemia trait underscores the complexity of autoimmune disorders and the need for comprehensive evaluation in patients presenting with multiple clinical manifestations.
摘要：
自身免疫性疾病是多方面的疾病，它们与其他疾病共存会给诊断和管理带来独特的挑战。这里,我们报道了1例罕见的常染色体隐性遗传高IgE综合征(AR-HIES)患儿的β地中海贫血特征.AR-HIES是一种独特的免疫缺陷性疾病，其特征是严重的湿疹和反复的细菌和病毒感染，尤其影响鼻肺系统。这个案例突出了识别和管理罕见遗传病共现的重要性，因为它会影响治疗策略和家庭咨询。在具有β地中海贫血特征的儿童中，这种独特的AR-HIES病例强调了自身免疫性疾病的复杂性以及对具有多种临床表现的患者进行综合评估的必要性。
